The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations

College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

(2015) Nazneen Aziz et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Assessing structural variation in a personal genome—towards a human reference diploid genome

(2015) Adam C English et al.   BMC GENOMICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective

(2015) Madhuri Hegde et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

RNA sequencing of sarcomas with simple karyotypes: identification and enrichment of fusion transcripts

(2015) Jakob Hofvander et al.   LABORATORY INVESTIGATION

The big medical data miss: challenges in establishing an open medical resource

(2015) Eric J. Topol   NATURE REVIEWS GENETICS

Immunotherapy: Making the case for precision medicine

(2015) Jeffrey A. Bluestone et al.   Science Translational Medicine

Personalized genomic analyses for cancer mutation discovery and interpretation

(2015) Siân Jones et al.   Science Translational Medicine

Methods-Based Proficiency Testing in Molecular Genetic Pathology

(2014) Iris Schrijver et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Comprehensive Diagnostic Testing for Stereocilin

(2014) Diana Mandelker et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Onco-proteogenomics: cancer proteomics joins forces with genomics

(2014) Javier A Alfaro et al.   NATURE METHODS

Detecting ultralow-frequency mutations by Duplex Sequencing

(2014) Scott R Kennedy et al.   Nature Protocols

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

(2013) Vandana Shashi et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

The new sequencer on the block: comparison of Life Technology’s Proton sequencer to an Illumina HiSeq for whole-exome sequencing

(2013) Joseph F. Boland et al.   HUMAN GENETICS

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH